CC2D1A belongs to the CC2D1 family. It contains one C2 domain. It is a transcription factor that binds specifically to the FRE (five repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. CC2D1A may play a role in the altered regulation of HTR1A associated with anxiety and major depression. It also mediates HDAC-independent repression of HTR1A promoter in neuronal cell. There are three named isoforms. Defects in CC2D1A are the cause of non-syndromic mental retardation autosomal recessive type 3 (MRT3). Patients display severe mental retardation and psychomotor development delay in early childhood. Non-syndromic mental retardation patients do not manifest other clinical signs.
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